Van Caelenberghe E, Meire F, Broux C, Vassart G, Cochaux P
Department of Ophthalmology, University Hospital, Ghent, Belgium.
Bull Soc Belge Ophtalmol. 1992;243:139-46.
Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.
莱伯遗传性视神经病变（LHON）是一种由母亲遗传的遗传性疾病，其特征为双眼突然失明。至少一种与该疾病相关的线粒体DNA突变的发现，为大约50%的LHON家族提供了分子诊断的基础。我们简要回顾了LHON的临床和分子遗传学方面，并介绍了我们对13例患者的研究结果。
